Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234220 | SCV000290344 | pathogenic | CHARGE association | 2016-01-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Truncating variants in CHD7 are known to be pathogenic. This particular truncation has been reported in the literature in a CHARGE syndrome patient (PMID: 21158681). This sequence change creates a premature translational stop signal at codon 1256 (p.Tyr1256*). It is expected to result in an absent or disrupted protein product. |